APOE ε 2 is associated with white matter hyperintensity volume in CADASIL

Benno Gesierich; Christian Opherk; Jonathan Rosand; Mariya Gonik; Rainer Malik; Eric Jouvent; Dominique Hervé; Poneh Adib-Samii; Steve Bevan; Luigi Pianese; Serena Silvestri; Maria T. Dotti; Nicola De Stefano; Jeroen Van Der Grond; Elles M.J. Boon; Francesca Pescini; Natalia Rost; Leonardo Pantoni; Saskia A. Lesnik Oberstein; Antonio Federico; Michele Ragno; Hugh S. Markus; Elisabeth Tournier-Lasserve; Hugues Chabriat; Martin Dichgans; Marco Duering; Michael Ewers

doi:10.1038/jcbfm.2015.85

APOE ε 2 is associated with white matter hyperintensity volume in CADASIL

Benno Gesierich, Christian Opherk, Jonathan Rosand, Mariya Gonik, Rainer Malik, Eric Jouvent, Dominique Hervé, Poneh Adib-Samii, Steve Bevan, Luigi Pianese, Serena Silvestri, Maria T. Dotti, Nicola De Stefano, Jeroen Van Der Grond, Elles M.J. Boon, Francesca Pescini, Natalia Rost, Leonardo Pantoni, Saskia A. Lesnik Oberstein, Antonio FedericoMichele Ragno, Hugh S. Markus, Elisabeth Tournier-Lasserve, Hugues Chabriat, Martin Dichgans, Marco Duering, Michael Ewers^*

^*Corresponding author for this work

Human genetics

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Apolipoprotein E (APOE) increases the risk for Alzheimer's disease (ε 4 allele) and cerebral amyloid angiopathy (ε 2 and ε 4), but its role in small vessel disease (SVD) is debated. Here we studied the effects of APOE on white matter hyperintensity volume (WMHV) in CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a nonamyloidogenic angiopathy and inherited early-onset form of pure SVD. Four hundred and eighty-eight subjects were recruited through a multicenter consortium. Compared with APOE ε 3/ε 3, WMHV was increased in APOE ε 2 (P = 0.02) but not APOE ε 4. The results remained significant when controlled for genome-wide genetic background variation. Our findings suggest a modifying influence of APOE ε 2 on WMHV caused by pure SVD.

Original language	English
Pages (from-to)	199-203
Number of pages	5
Journal	Journal of Cerebral Blood Flow and Metabolism
Volume	36
Issue number	1
DOIs	https://doi.org/10.1038/jcbfm.2015.85
Publication status	Published - 1 Jan 2016

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Gesierich, B., Opherk, C., Rosand, J., Gonik, M., Malik, R., Jouvent, E., Hervé, D., Adib-Samii, P., Bevan, S., Pianese, L., Silvestri, S., Dotti, M. T., De Stefano, N., Van Der Grond, J., Boon, E. M. J., Pescini, F., Rost, N., Pantoni, L., Lesnik Oberstein, S. A., ... Ewers, M. (2016). APOE ε 2 is associated with white matter hyperintensity volume in CADASIL. Journal of Cerebral Blood Flow and Metabolism, 36(1), 199-203. https://doi.org/10.1038/jcbfm.2015.85

@article{d7134da8a97e41cfa44c9d07580fc6dc,

title = "APOE ε 2 is associated with white matter hyperintensity volume in CADASIL",

abstract = "Apolipoprotein E (APOE) increases the risk for Alzheimer's disease (ε 4 allele) and cerebral amyloid angiopathy (ε 2 and ε 4), but its role in small vessel disease (SVD) is debated. Here we studied the effects of APOE on white matter hyperintensity volume (WMHV) in CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a nonamyloidogenic angiopathy and inherited early-onset form of pure SVD. Four hundred and eighty-eight subjects were recruited through a multicenter consortium. Compared with APOE ε 3/ε 3, WMHV was increased in APOE ε 2 (P = 0.02) but not APOE ε 4. The results remained significant when controlled for genome-wide genetic background variation. Our findings suggest a modifying influence of APOE ε 2 on WMHV caused by pure SVD.",

keywords = "APOE, CADASIL, multicenter study, small vessel disease, white matter hyperintensities",

author = "Benno Gesierich and Christian Opherk and Jonathan Rosand and Mariya Gonik and Rainer Malik and Eric Jouvent and Dominique Herv{\'e} and Poneh Adib-Samii and Steve Bevan and Luigi Pianese and Serena Silvestri and Dotti, {Maria T.} and {De Stefano}, Nicola and {Van Der Grond}, Jeroen and Boon, {Elles M.J.} and Francesca Pescini and Natalia Rost and Leonardo Pantoni and {Lesnik Oberstein}, {Saskia A.} and Antonio Federico and Michele Ragno and Markus, {Hugh S.} and Elisabeth Tournier-Lasserve and Hugues Chabriat and Martin Dichgans and Marco Duering and Michael Ewers",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2015.",

year = "2016",

month = jan,

day = "1",

doi = "10.1038/jcbfm.2015.85",

language = "English",

volume = "36",

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journal = "Journal of Cerebral Blood Flow and Metabolism",

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Gesierich, B, Opherk, C, Rosand, J, Gonik, M, Malik, R, Jouvent, E, Hervé, D, Adib-Samii, P, Bevan, S, Pianese, L, Silvestri, S, Dotti, MT, De Stefano, N, Van Der Grond, J, Boon, EMJ, Pescini, F, Rost, N, Pantoni, L, Lesnik Oberstein, SA, Federico, A, Ragno, M, Markus, HS, Tournier-Lasserve, E, Chabriat, H, Dichgans, M, Duering, M & Ewers, M 2016, 'APOE ε 2 is associated with white matter hyperintensity volume in CADASIL', Journal of Cerebral Blood Flow and Metabolism, vol. 36, no. 1, pp. 199-203. https://doi.org/10.1038/jcbfm.2015.85

TY - JOUR

T1 - APOE ε 2 is associated with white matter hyperintensity volume in CADASIL

AU - Gesierich, Benno

AU - Opherk, Christian

AU - Rosand, Jonathan

AU - Gonik, Mariya

AU - Malik, Rainer

AU - Jouvent, Eric

AU - Hervé, Dominique

AU - Adib-Samii, Poneh

AU - Bevan, Steve

AU - Pianese, Luigi

AU - Silvestri, Serena

AU - Dotti, Maria T.

AU - De Stefano, Nicola

AU - Van Der Grond, Jeroen

AU - Boon, Elles M.J.

AU - Pescini, Francesca

AU - Rost, Natalia

AU - Pantoni, Leonardo

AU - Lesnik Oberstein, Saskia A.

AU - Federico, Antonio

AU - Ragno, Michele

AU - Markus, Hugh S.

AU - Tournier-Lasserve, Elisabeth

AU - Chabriat, Hugues

AU - Dichgans, Martin

AU - Duering, Marco

AU - Ewers, Michael

PY - 2016/1/1

Y1 - 2016/1/1

N2 - Apolipoprotein E (APOE) increases the risk for Alzheimer's disease (ε 4 allele) and cerebral amyloid angiopathy (ε 2 and ε 4), but its role in small vessel disease (SVD) is debated. Here we studied the effects of APOE on white matter hyperintensity volume (WMHV) in CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a nonamyloidogenic angiopathy and inherited early-onset form of pure SVD. Four hundred and eighty-eight subjects were recruited through a multicenter consortium. Compared with APOE ε 3/ε 3, WMHV was increased in APOE ε 2 (P = 0.02) but not APOE ε 4. The results remained significant when controlled for genome-wide genetic background variation. Our findings suggest a modifying influence of APOE ε 2 on WMHV caused by pure SVD.

AB - Apolipoprotein E (APOE) increases the risk for Alzheimer's disease (ε 4 allele) and cerebral amyloid angiopathy (ε 2 and ε 4), but its role in small vessel disease (SVD) is debated. Here we studied the effects of APOE on white matter hyperintensity volume (WMHV) in CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a nonamyloidogenic angiopathy and inherited early-onset form of pure SVD. Four hundred and eighty-eight subjects were recruited through a multicenter consortium. Compared with APOE ε 3/ε 3, WMHV was increased in APOE ε 2 (P = 0.02) but not APOE ε 4. The results remained significant when controlled for genome-wide genetic background variation. Our findings suggest a modifying influence of APOE ε 2 on WMHV caused by pure SVD.

KW - APOE

KW - CADASIL

KW - multicenter study

KW - small vessel disease

KW - white matter hyperintensities

UR - http://www.scopus.com/inward/record.url?scp=84951569888&partnerID=8YFLogxK

U2 - 10.1038/jcbfm.2015.85

DO - 10.1038/jcbfm.2015.85

M3 - Article

C2 - 25920955

AN - SCOPUS:84951569888

SN - 0271-678X

VL - 36

SP - 199

EP - 203

JO - Journal of Cerebral Blood Flow and Metabolism

JF - Journal of Cerebral Blood Flow and Metabolism

IS - 1

ER -

APOE ε 2 is associated with white matter hyperintensity volume in CADASIL

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